Linked Data
ClinVar Variation Id:
422345
dbSNP Id:
rs369501114
ExAC:
10:73565943 G / A
gnomAD v2:
10-73565943-G-A
gnomAD v3:
10-71806186-G-A
gnomAD v4:
10-71806186-G-A
ERepo:
CA5546544/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71806186G>A , CM000672.2:g.71806186G>A | GRCh38 |
| NC_000010.10:g.73565943G>A , CM000672.1:g.73565943G>A | GRCh37 |
| NC_000010.9:g.73235949G>A | NCBI36 |
| NG_008835.1:g.414240G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.8083G>A MANE Select | ENSP00000224721.9:p.Asp2695Asn | |
| ENST00000642965.1:c.2016G>A | ENSP00000495222.1:n.2016G>A | |
| ENST00000647092.1:c.1680G>A | ENSP00000495176.1:n.1680G>A | |
| ENST00000224721.10:c.8098G>A | ENSP00000224721.8:p.Asp2700Asn | |
| ENST00000398788.4:c.1363G>A | ENSP00000381768.3:p.Asp455Asn | |
| ENST00000475158.1:n.1619G>A | ||
| ENST00000619887.4:c.1363G>A | ENSP00000478374.1:p.Asp455Asn | |
| ENST00000622827.4:c.8083G>A | ENSP00000483211.1:p.Asp2695Asn | |
| NM_001171933.1:c.1363G>A | NP_001165404.1:p.Asp455Asn | |
| NM_001171934.1:c.1363G>A | NP_001165405.1:p.Asp455Asn | |
| NM_022124.5:c.8083G>A | NP_071407.4:p.Asp2695Asn | |
| XM_006717940.2:c.8278G>A | XP_006718003.1:p.Asp2760Asn | |
| XM_006717942.2:c.8212G>A | XP_006718005.1:p.Asp2738Asn | |
| XM_011540039.1:c.8275G>A | XP_011538341.1:p.Asp2759Asn | |
| XM_011540040.1:c.8272G>A | XP_011538342.1:p.Asp2758Asn | |
| XM_011540041.1:c.8218G>A | XP_011538343.1:p.Asp2740Asn | |
| XM_011540042.1:c.8188G>A | XP_011538344.1:p.Asp2730Asn | |
| XM_011540043.1:c.8278G>A | XP_011538345.1:p.Asp2760Asn | |
| XM_011540044.1:c.8143G>A | XP_011538346.1:p.Asp2715Asn | |
| XM_011540045.1:c.8278G>A | XP_011538347.1:p.Asp2760Asn | |
| XM_011540046.1:c.7738G>A | XP_011538348.1:p.Asp2580Asn | |
| XM_011540047.1:c.7096G>A | XP_011538349.1:p.Asp2366Asn | |
| XM_011540052.1:c.4606G>A | XP_011538354.1:p.Asp1536Asn | |
| NM_022124.6:c.8083G>A MANE Select | NP_071407.4:p.Asp2695Asn |